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FLASH GENE

Symbol

AHNAK

contributors: mct - updated : 28-06-2020

HGNC name	AHNAK nucleoprotein
HGNC id	347

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001620 5 - 18815 NP_001611 629 5890 - 2006 16984913 NM_024060 6 - 1108 NP_076965 - 149 - 2006 16984913

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive mouth       highly Nervous brain         Homo sapiens Respiratory respiratory tract trachea     highly   respiratory tract larynx     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose     highly Muscular striatum cardiac     Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune T cell Muscular myocyte Nervous Schawnn cell Homo sapiens

cell lineage	several cell lineages
cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal 251 amino acids
	the large central region of about 4300 amino acids with up of conserved domains repeated 36 times
	binding motif specific for the Annexin2/S100A10 tetramer (A2tBP1)
	C-terminal 1002 AAs, exerting a stabilizing effect on muscle contractility, via its interaction with actin of thin filaments, and binding to dysferlin by glutathione S-transferase ;
	proximal C-terminus acts as repressor in basal conditions by masking CACNB2 functionality and this effect could be relieved by PKA phosphorylation of the interaction partners

conjugated

RiboP

HOMOLOGY

interspecies

homolog to desmosomal plaque protein (desmoyokin) in bovine

Homologene

FAMILY

CATEGORY

chaperone/stress , regulatory , structural protein

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,lysosome
	intracellular,cytoplasm,cytosolic,vesicle
	intracellular,cytoplasm,cytoskeleton
	intracellular,nucleus
text	sarcolemma includng the T-tubular system and the intercaled disks of cardiomyocytes
	in normal skeletal muscle, dysferlin and AHNAK colocalize at the sarcolemmal membrane and T-tubules

basic FUNCTION	involved in several signal transduction pathways
	playing a regulatory role of the actin-bound cytoskeleton to the l-type Ca2+ channel
	involved in regulating excitation/contraction coupling of cardiomyocytes
	may be required for neuronal cell differentiation
	potentiating protein kinase C activation through inhibiting the interaction of PKC with PPP2R4
	playing an important role in the formation of cytoskeletal structure, calcium homeostasis, and muscle regeneration
	acting as a molecular scaffold networking between L-type calcium channel and kinase/phosphatase
	playing a role in dysferlin membrane repair process
	scaffold protein, highly expressed by CD4+ T cells, and critical component for calcium signaling
	plays an essential role in T cell Ca2+ signaling through CACNA1S channels, triggered via TCR activation
	involved with calcium signaling through protein–protein interactions
	having a critical function during CTL response, which normally is required to fight cancer or viral infections
	abnormally localizes in muscular dystrophies and contributes to muscle vesicle release
	mediates a negative regulation of cell growth and acts as novel tumor suppressor through potentiation of TGFB1 signaling
	by interfering in the cross-talk between the transmembrane form of the laminin receptor dystroglycan and F-actin, AHNAK influences the cytoskeleton organization of Schwann cells (SCs), and thus plays a role in the regulation of their morphology and motility and lastly, the myelination process
	AHNAK might be involved in modulating the differentiation of newly generated cells into neuronal or non-neuronal cells
	role for AHNAK in cell fate determination during development, suggestng that manipulation of AHNAK and the associated signaling pathway may provide a means to regulate induced pluripotent stem cells (iPSC) generation
	regulates likely adipogenesis by regulating SMAD1-dependent PPARG expression

CELLULAR PROCESS

cell organization/biogenesis

PHYSIOLOGICAL PROCESS

text	neurogenesis

PATHWAY

metabolism

energetic

signaling

a component

component of the dysferlin protein complex

INTERACTION

DNA

RNA

small molecule

protein	binding of S100A10 through its C-terminal domain
	with regulatory beta 2 subunit of the cardiac l-type Ca2+ channel
	interacts with dysferlin
	G actin
	phosphorylation of Ser-296 CACNB2 affects AHNAK interaction in a complex manner and is a leading candidate for optional PKA-mediated modulation of L-type Ca2+ channel activity in the heart
	plays an important scaffolding function connecting ERK and RAC1 activation in PDGF-dependent migration of aortic smooth muscle cells (ASMCs)
	SMAD3 interacts with AHNAK through MH2 domain and AHNAK stimulates SMAD3 localization into nucleus leading to potentiating TGFB1-induced transcriptional activity of R-SMAD
	interacts with DAG1 and controls motility and mechanical properties of Schwann cells
	AHNAK is required for the expression of functional CDH1

cell & other

REGULATION

repressed by

repressed in neuroblastoma

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function resulted in a reduced calcium influx upon TCR crosslinking and subsequent poor activation of the transcription factor NFAT tumoral     --over   highly expressed and plays a key role in cell migration and invasion in mesothelioma tumoral     --over   of ANHAK and TMEFF1 in ovarian cancer indicated a higher degree of tumor malignancy and a worse prognosis

Susceptibility

Variant & Polymorphism

Candidate gene	autoantigen in systemic lupus erythematosus(SLE)
Marker	has the potential to be a new marker for detecting mesothelioma
Therapy target
	System Type Disorder Pubmed immunology infectious   potential target for therapeutic intervention cancer reproductive ovary the interaction between AHNAK and TMEFF1 may become a potential anti-tumor target for ovarian cancer treatment

ANIMAL & CELL MODELS

	Ahnak-deficient mice were protected from high-fat diet-induced obesity
	Ahnak deficiency plays a positive role for hippocampal neurogenesis in adult mice because proliferating cells were increased in Ahnak(-/-) mice and advanced to mature neurons